Articles tagged with Genetic Analysis
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Researchers from the Crump Lab created a series of atlases to study the molecular decisions of cranial neural crest cells, identifying genetic signs that point to specific destinies. Their findings reveal a new approach to understanding head development and regeneration in vertebrates.
A new study led by Mount Sinai researchers found that microglia may play a critical role in some cases of brain disease, and provides a comprehensive guide for future studies. The study identified two new genes linked to brain disorders, including Alzheimer's and Parkinson's diseases.
Researchers found fingerprints influenced by genes responsible for limb development, shedding light on phenotypical traits in humans. The study identifies 43 genome regions associated with fingerprint patterns and suggests a link between dermatoglyphic patterns and congenital genetic disorders.
A new study provides a detailed timeline of mammal evolution, confirming that modern placental mammal groups postdate the K-Pg extinction. The researchers used a novel computational approach to analyse a large genomic dataset and answer a long-standing question about mammal origins.
A new study found that changes in specific genes contribute to the roughly 400 sudden unexplained deaths in children aged one year and older. Nearly 9% of the analyzed DNA codes had genetic changes in genes regulating calcium function, which can cause arrhythmias and seizures, increasing the risk of sudden death.
Researchers are exploring how an engineered adeno-associated virus (AAV) can compensate for missing protein or swap out genetic mutations that cause vision problems. AAV has been found to be beneficial and is being used as a tool to deliver genes that work as they should.
Scientists found that seven genes associated with bright-light vision are absent in burrowing snakes, demonstrating extensive vision gene loss over millions of years. This challenges the hypothesis that all modern snakes evolved from extreme burrowers, suggesting a different evolutionary path for these subterranean snakes.
Researchers at UNC Lineberger Comprehensive Cancer Center have developed a novel way to classify breast cancers into 12 distinct biological groups using both genetic and pathologic data. This classification method has the potential to aid future research efforts and enable faster translation of molecular findings into clinical use.
Researchers at the University of Missouri have developed a free online resource that speeds up data analysis of human genomes three times faster than current methods. This enables scientists to see how an individual's genome makes them susceptible to different diseases in different ways, ultimately reducing associated costs and increas...
A recent study uses machine learning to rapidly discover bacterial isolates with antifungal properties, identifying promising new compounds for crop protection. The approach analyzes thousands of microbial genomes at once, allowing researchers to identify novel beneficial microbes and bypass traditional screening tactics.
A recent study published in Canine Medicine and Genetics reveals that most dog breeds are highly inbred, with an average inbreeding rate of 25% or sharing the same genetic material with a full sibling. This high level of inbreeding contributes to increased disease and healthcare costs throughout a breed's lifespan.
A Michigan Medicine study combined genetic samples from patients of different ethnic backgrounds, identifying two new psoriasis genetic signals. The inclusion of South Asian subjects allowed researchers to pinpoint several genetic variations within HLA genes that are likely to play a causal role in psoriasis.
Researchers developed a kinetic hypothesis governing the evolution of the Last Universal Common Ancestor (LUCA) based on simulation experiments. They discovered a kinetic factor that governs the flow of chemical reactions in the TCA cycle, validating their hypothesis for deep-branching bacteria and archaea.
Researchers used clam fossils to create a comprehensive evolutionary tree over hundreds of millions of years, revealing that a basic assumption can significantly distort the picture of which species are destroyed during mass extinctions. The study found that assuming lineages always split into two new species can push the origins of ne...
A study published in Proceedings of the Royal Society B reveals that a rare alga, Chlorokybus, contains at least five distinct species previously thought to be a single entity. Genetic analysis confirmed these findings, shedding new light on the biodiversity and evolutionary pathways of this key algal group.
A new study argues that the Justinianic Plague had a devastating impact on the Mediterranean world, and its effects were felt in England. Genetic discoveries suggest that bubonic plague may have reached England before its first recorded case in the Mediterranean, via a currently unknown route.
A study with lab-grown mouse cells reveals that lamin C plays a key role in maintaining the structural network under the cell's nucleus, ensuring proper DNA organization. This finding has significant implications for diagnosing and treating genetic disorders linked to DNA disorganization, such as progeria and muscular dystrophy.
Researchers used DNA analysis to confirm traditional Tsleil-Waututh Nation fishing practices that promoted sustainable management and conservation. These practices, which selectively harvested male salmon, allowed for larger harvests while maintaining healthy populations and successful spawning.
A new study by USC researchers uses a genetic technology to analyze gene expression signatures of individual cancer cells from patients with leukemia. The findings show that cancer cells with distinct gene expression profiles tend to grow in different organs, while those with specific genes are more resistant to chemotherapy.
Researchers identified 23 genes contributing to congenital heart disease, including 12 previously unknown, using a new algorithm called M-DATA. This method combines genetic data from people with related conditions, increasing the power to identify risk factors and potentially leading to improved treatments.
A recent study found that whale sharks in Panama may originate from the Arabian Gulf and Western Indian Ocean, highlighting their ability to travel long distances. This discovery underscores the need for transboundary conservation measures like marine corridors to protect this endangered species.
A man has been confirmed as the great-grandson of Sitting Bull using ancient DNA extracted from his scalp lock. The new technique analyzes autosomal DNA to establish familial relationships between living and historical individuals, with potential applications in forensic investigations.
Scientists at the University of Colorado School of Medicine have identified specific genetic biomarkers in blood samples that can indicate the severity of COVID-19. The study's findings suggest that these signals can be used to monitor SARS-CoV-2 status and predict clinical outcomes.
A preclinical study found that blocking the Bach1 protein slowed brain cell deterioration in Parkinson's disease. The researchers identified a potent inhibitor of Bach1 called HPPE, which protected cells from inflammation and oxidative stress, and showed promise as a potential therapeutic target.
A commonly used diuretic pill may help treat Alzheimer's disease in individuals with the apolipoprotein E gene APOE4. Researchers analyzed data from brain tissue samples and found that those taking bumetanide had a significantly lower prevalence of Alzheimer's disease compared to those not taking the drug.
A new list of 546 expert-curated pathogenic variants in 84 genes has been developed for use in next-generation sequencing (NGS) genetic testing. This curated resource addresses the complexities of large assays and provides a scalable solution for test developers and laboratories.
The NIH BRAIN Initiative Cell Census Network has published an atlas of cell types and neuronal wiring diagram for the mammalian primary motor cortex, derived from detailed studies of mice, monkeys, and humans. This comprehensive resource provides a foundation for further study of cell types in the rest of the brain.
Researchers found that wild and hatchery coho salmon demonstrate different genetic markers for negative assortment, a common finding in mating. They are now trying to emulate the natural mating of coho salmon in a hatchery environment using genetic profile information.
A researcher is collecting and genetically analyzing species found in the region's watersheds to understand their historical genetic connections. The project aims to rewrite the book on Guam's native diadromous organisms and potentially discover new species.
Scientists use statistical mechanics to explore the phenomenon of gene regulation's rhythmic changes in expression levels across the genome. They found that DNA molecules' changing shape is crucial to gene expression, potentially reconciling major theories on the topic.
Researchers found that ambient UVB radiation before COVID-19 infection was strongly associated with reduced hospitalization and death. The study suggests that vitamin D may protect against severe COVID-19 disease and death, particularly in individuals who do not produce enough vitamin D through sun exposure.
A large-scale trial will assess the effects of cocoa supplements and multivitamins on aging, including inflammatory factors and genetic changes. Researchers aim to determine if cocoa consumption can reduce age-related health issues such as heart disease, stroke, and cancer.
A new study explains how genetic islands can occur in marine molluscs by studying the limpet Nacella concinna. The researchers found that an entire generation of offspring descended from a limited number of parents and were carried by ocean currents to one location.
The USC Institute is launching a $3 million global consortium study to analyze brain imaging, genetics, and clinical data from 20 countries. The study aims to understand how Parkinson's disease progresses in the brain and explore genetic factors contributing to risk.
A recent study found that individuals with COVID-19 are at a higher risk of developing phlebitis and thrombophlebitis, as well as blood clots in the leg and lung. The study also identified associations between general COVID-19 susceptibility and increased blood clot events and circulatory diseases.
Researchers discovered a distinct difference in gene expression in women who underwent preterm labor compared to those at full term. The findings suggest new directions for studying preterm labor and potentially effective treatments.
Researchers have uncovered thousands of new regulatory regions that control disease-linked genes, providing a significant step forward for genomics-driven precision medicine. This new resource, available worldwide, could help identify markers revealing which patients will benefit most from specific treatments.
Silent mutations, which don't change protein sequences, hold diagnostic value in predicting cancer types and patient survival. The study analyzed over 10,000 cancer genomes and found that combining information from silent and non-silent mutations improved classification and prognostication up to 17% and 5%, respectively.
Researchers sequenced the bowfin genome to investigate its unique combination of ancestral and advanced features. The study found unexpected insights into diverse aspects of bowfin biology, including the absence of key genes in its pectoral fin.
A new study from Uppsala University found that genetic tests are more accurate than traditional blood tests in determining the risk of cardiovascular diseases. The study analyzed data from 500,000 subjects and discovered a significant link between blood group genetics and coagulation proteins.
International genetic research projects struggle with GDPR interpretation due to ambiguous rules on personal data, consent, and data transfer outside the EU/EEA. Measures to reduce these challenges are proposed, including a more genetics-sensitive approach with regulators.
Researchers discover that gastrin-releasing peptide (GRP) is widely conserved among vertebrates, but the NMB/bombesin system has diversified in some lineages. GRP has evolved independently from a single ancestral homologue and plays a role in regulating energy intake and expenditure in both amphibians and mammals.
A team of scientists led by Assistant Professor Lae-Hyeon Cho identified a single mutation in the gene that codes for cytidine triphosphate synthase (CTPS), an enzyme crucial for early endosperm development. The study showed that overexpressing CTPS in genetically modified rice plants results in a larger endosperm, opening up opportuni...
A new study has identified 20 genetic regions linked to face shape in East Africans, highlighting the importance of diverse populations in understanding human facial features. The findings also reveal that shared genetic factors contribute to similarities across populations, while population-specific variants drive differences.
A recent UNSW study found that women who received their polygenic risk score (PRS) for breast cancer experienced minimal regret and reduced distress compared to those who declined. The researchers also discovered that more women reported regret about not knowing their PRS score, highlighting the importance of providing clear informatio...
A comprehensive molecular map of lung squamous cell carcinoma has identified potential new drug targets, including the gene NSD3, and highlighted immune regulation pathways that could help cancer evade immunotherapies. The study's findings have also revealed metabolic dysregulation and crosstalk between different cellular processes.
A new DNA study provides critical information on conserving rough-nosed horned lizards in Sri Lankan rainforests. The research found that the lizards are separated into four forest groups, which can inform guidelines for forest landscape restoration and habitat connectivity.
A new droplet digital PCR-based assay for HPV16 circulating tumor DNA was developed to predict treatment response in metastatic head and neck squamous cell carcinoma. Longitudinal changes of HPV16 ctDNA correlate with treatment response, allowing for early identification of treatment failure.
Researchers identified a novel lncRNA, Teshl, which plays a crucial role in the development of Y-bearing sperm and regulates sex chromosome gene expression. The study provides new insights into sex ratio variations and suggests that genetics may be a key factor in human male infertility.
Researchers reprogrammed whale cells into neuronal cells to investigate the neurotoxic effects of an environmental pollutant. The study found that exposure to the pollutant led to apoptosis and disrupted cellular signaling pathways, ultimately causing neurodegeneration.
Researchers at the University of Missouri have found that cattle are losing important environmental adaptations due to a lack of genetic information. They identified specific DNA variations associated with adaptations such as heat resistance and tolerance for high humidity, which could be used to create DNA tests for cattle.
Two recent studies link EBV reactivation to long COVID symptoms and severe COVID-19 cases. Researchers found that nearly 73% of patients with long COVID were positive for EBV reactivation, suggesting a potential role for the virus in the development of these symptoms.
A genetic biobank containing DNA from 25 babies who died from SIDS in South Australia could help identify genetic causes and prevent future deaths. The biobank will enable researchers to test babies at birth for risk factors and closely monitor those identified, potentially saving hundreds of baby lives.
The study found that early Anglo-Saxons had a mix of local and continental ancestry, with the ratio changing over time due to varying immigration patterns. The results suggest that being Anglo-Saxon was tied to language and culture rather than genetics.
Researchers at UVA School of Medicine have identified 19 new genes linked to bone mineral density, providing insights into osteoporosis. The study's novel approach uses laboratory mice to overcome human study limitations.
Researchers from CRAG and IRTA identify the MYB10 genes responsible for anthocyanin production in Japanese plums, leading to a highly efficient tool for early selection of colored fruits. This breakthrough has significant implications for breeding programs, reducing time and resources needed to develop new varieties with desirable traits.
Researchers from Hiroshima University used a meta-analysis of publicly available transcriptome databases to identify four new genes associated with hypoxia. By combining transcriptomic and bibliometric analyses, they found previously unknown genes that were not well studied in relation to hypoxia.
A new study found that healthy lifestyles are associated with lower cognitive impairment risks in adults over 80, regardless of APOE ε4 status. The analysis confirmed that individuals with healthier lifestyles had a 55% and 28% lower risk of cognitive impairment compared to those with unhealthy lifestyles.
A study has identified a gene that plays a crucial role in brain development, with mutations affecting inheritance patterns. The Plexin-A1 gene is found to have dominant and recessive forms, which can cause significant damage to the brain and eyes.
A new study by NUI Galway confirms that Noble False Widow spider bites can cause severe envenomations, ranging from mild pain to debilitating symptoms and even hospitalization. The research team established a DNA database to identify the species, revealing that most bites occur in homes and around sleep sites.